DISEASES

Disease-gene associations mined from literature

Literature associating SMUG1 and brain sarcoma

SMUG1 [ENSP00000424191]

Single-strand-selective monofunctional uracil-DNA glycosylase 1; Recognizes base lesions in the genome and initiates base excision DNA repair. Acts as a monofunctional DNA glycosylase specific for uracil (U) residues in DNA with a preference for single-stranded DNA substrates. The activity is greater toward mismatches (U/G) compared to matches (U/A). Excises uracil (U), 5- formyluracil (fU) and uracil derivatives bearing an oxidized group at C5 [5-hydroxyuracil (hoU) and 5-hydroxymethyluracil (hmU)] in ssDNA and dsDNA, but not analogous cytosine derivatives (5- hydroxycytosine and 5-formylcytosine), nor other oxidized bases. The activity is damage-specific and salt-dependent. The substrate preference is the following: ssDNA > dsDNA (G pair) = dsDNA (A pair) at low salt concentration, and dsDNA (G pair) > dsDNA (A pair) > ssDNA at high salt concentration; Belongs to the uracil-DNA glycosylase (UDG) superfamily. SMUG1 family.

Synonyms:  SMUG1,  SMUG1p,  hSMUG1,  A0A024RAZ8,  D6RA25 ...

Linkouts:  STRING  Pharos  UniProt